The case of a patient with visceroptosis and Ehlers-Danlos syndrome hypermobility type (RDS-HT) is reported here. The literature on this unusual but probably under-recognized complication is reviewed.

The Ehlers-Danlos syndromes (EDS) manifest as joint hypermobility, skin hyperextensibility, tissue fragility, and a host of potential symptoms and sometimes very serious complications, many of which are gastrointestinal.

We tell the story of a patient with the hypermobility type of EDS (EDS-HT), complicated by

severe constipation,

gastroparesis,

nausea,

intractable abdominal pains and

visceroptosis – defined as the displacement of various abdominal organs from their normal positions.

I’m not surprised that it sometimes allows for the displacement of organs. I, too, have had crippling visceral pains that sat in my gut for several hours for no particular reason I could pin it to.

Until 2008, I was very active with a body weight appropriate to my height. I mountain biked and hiked through steep terrain in the back-country. I easily covered great distances carrying a heavy backpack. I had a healthy appetite with no problems. Life was normal and active.

In 2008, I took a two-week road trip across the United States. I was seated for several hours each day. I became constipated. I did not think much of it because I thought it was due to lack of exercise. However, after the trip, the constipation continued and became more and more severe.

I was able to have a bowel movement only once every 10 days. A pain associated with eating began and progressively intensified. I began to avoid eating for days at a time just to keep the pain at bay.

However, I would become so hungry that I would overeat, become very nauseated, and vomit. Sometimes, I would vomit food eaten the day before.

My abdomen was very bloated when standing and I experienced pain in my lower abdomen and also up behind my liver that I can only describe as a tearing, throbbing, pinching sensation.

It is hard to pinpoint when the really severe nausea started. It could have been 2009 or 2010, but the pain, coupled with the nausea, continued to increase. I used to weigh 180 pounds. During this illness, I dropped to 117 pounds.

After my first surgery to look after my slow stomach emptying (details later), the pain and nausea were amplified. When I tried to eat, sometimes the nausea and abdominal pain became very intense. After my second surgery (details later), I was no longer constipated because I now had an ileostomy but…

Today I am in pain all of the time, especially if I try to eat.

Even drinking a cup of clear liquid has been painful.

I have a hard time sleeping and it feels like a pinching, tearing, throbbing, and intense pressure mostly in the lower abdomen. I would be grateful to have anyone’s thoughts on anything that could lead to a better quality of life.

The doctor’s story:

I first met the patient in 2013 when he was 41 years old. His vomiting had become severe and he had been hospitalized with hypokalemic, hypochloremic, metabolic alkalosis

History revealed vomiting of day old food and pills. On examination, his pupils reacted normally to light and there was no postural hypotension or tachycardia

From Wikipedia: Gastroptosis is the abnormal downward displacement of the stomach.

During a whole gut radio-opaque marker study, 13 of the 19 identified markers were still in his stomach at 23 hours and all 19 markers were still in his rectum and descending colon at seven days.

Later, the study of an upright film, after he had eaten a sandwich with some barium, showed a lot of material in his stomach as well as barium in his colon and a very “ptotic” transverse colon.

A defecating proctogram showed normal emptying but with prominent rectal folds and some small bowel loops posterior to the rectum. CT, barium, and transit studies of the small bowel were normal except that the majority of the loops were deep within the pelvis along with the cecum

In addition to constipation, weight loss, and vomiting, he had three abdominal pains:

right lateral lower abdomen,

right lower lateral chest and

upper abdomen, and a

deep pelvic pain as well as a

pain deep to his sacrum

All were described with words such as “jamming, sticking, sharp, tearing, needling, hooking, poking, sharp, and deep”.

Eating tended to make them all worse.

Vomiting and having a bowel movement tended to help as did lying in a Trendelenburg position or using an inversion table

An abdominal support garment did not help

We tried all

standard laxatives,

enemas,

suppositories,

metoclopramide,

domperidone,

erythromycin,

proton pump inhibitors,

prucalopride,

linaclotide,

a range of antidepressants and atypical antipsychotics, and

even cannabis oil,

in an attempt to control his symptoms.

They all failed.

Feeding by nasojejunal and gastrojejunal tube was tried but made his nausea and lower abdominal pain worse. He required parenteral feeding to maintain nutrition.

A feeding jejunostomy tube was placed. The vomiting stopped, but abdominal pain and nausea persisted, occurring even with jejunal feeding. Parenteral feeding was restarted. After a further 10 months of attempts to control his symptoms, a partial right colectomy with end ileostomy was performed laparoscopically

The commonest form of EDS is the hypermobility type (EDS-HT), also called the joint hypermobility syndrome (JHS). It has an extremely strong association with the so-called “functional” symptoms of

dyspepsia,

reflux,

bloating,

nausea,

vomiting,

diarrhea,

constipation, and

chronic abdominal pain

When investigated further, gastroparesis, esophageal dysmotility, abnormal small bowel motility, slow transit constipation, rectal defecatory dysfunction, small bowel dilatation, and even celiac disease may be found

Conclusions

Although considered “benign”, EDS-HT/JHS can be a devastating disorder that causes severe physical and psychological distress and marked functional disability.

None of the antinauseants and prokinetics we tried helped. Of all the laxatives, only polyethylene glycol (PEG) worked but at the cost of worsening abdominal pain and nausea. Narcotics helped keep the pain tolerable but made constipation and fatigue worse

In the case we are reporting, the gastric pouch and gastrojejunostomy did stop the vomiting and the ileostomy did remove constipation from the equation, but the patient is still in constant pain which worsens whenever he tries to eat.

What to do now?

This sounds like one of the worst nightmares: inability to take in sustenance without pain. How does a person survive this?

Here’s a more general PubMed article about the various digestive processes that can go haywire with EDS:

Conclusions

FBD and GERD are very common in our study population, the largest ever published until now. Their impact is herein shown to be important. A systematic clinical assessment of digestive features should be recommended in EDS.

117 patients (87.3%) had a KESS score > 9, which is the generally accepted cut-off for constipation.

There was a statistically significant association between FBD and GERD: 89.2% (91/102) patients with FBD also had GERD

Impact on quality of life

Median GIQLI (Gastrointestinal Quality of Life Index) was 63.5 [27-117]. The mean score was significantly lower when compared with a French control population of 238 individuals.

All subscales scores were significantly lower for patients with EDS when compared to the control groups (p<0.0001)

Discussion

In the present survey, we have shown that the frequency of functional gastrointestinal manifestations in EDS was highly prevalent, much higher than previously assessed.

IBS, functional constipation and GERD were present in respectively 48%, 36% and 79% of our study population

Most publications concerning gut symptoms in patients with EDS are dealing with vascular type, certainly because it is the most serious one, but gut symptoms occurring in classical or hypermobility types, which affect the majority of patients are paradoxically less documented.

Our survey is, to our knowledge, the largest in an EDS national cohort assessing gastrointestinal profile of affected patients. All subjects have been formally diagnosed after clinical examination by a single national expert, (CH) according to the validated international Villefranche criteria.

Thus, diagnosis of EDS in the respondents of our survey is thought to be reliable and other phenotypically related conditions must have been excluded.

The major findings of the current study are that

gastrointestinal manifestations are very common and generally not specific,

frequently important and that

they can have a strong impact on quality of life.

There was a statistically significant association between upper and lower GI symptoms.

Overall, median GIQLI (Gastrointestinal Quality of Life Index) was 63.5 [51.8-76.8], which is extremely low compared to most publications and it is of note that GERD and lower GI symptoms negatively influenced this scoring system.

All these findings clearly indicate that digestive manifestations in EDS are of major relevance and may have been previously underdiagnosed and undertreated.

All reported symptoms are remarkably nonspecific and this could partly explain why little attention has been paid until now to these clinical manifestations. In addition, no severe complication has been described in our population, emphasizing the clear distinction between rare but serious complications of EDS vascular type and other common benign but disabling manifestations, for which literature is scarce.

The medical literature is focused on more specific and dramatic symptoms, which sidelines many EDS symptoms by relegating them to a status of “inconsequential”.

However, while these “inconsequential” symptoms would normally be just that, with EDS, their sheer number and their cumulative nature can make them disabling.

One might hypothesize that tissue hyperextensibility of the gastrointestinal tract could play a role but proprioceptive disorders as well as dysautonomic syndrome which are very common in EDS [13] could also contribute to gastrointestinal manifestations

Whether endoscopic examinations are necessary and at high risk of complication, in particular perforation, is an unresolved question.

On the other hand, the matter of colonoscopy is more sensitive.

Indeed, the risk of perforation is clearly significant in vascular EDS and colonoscopy should be strongly discouraged in this population.

Additionally, the risk of any complication (perforation or bleeding) is theoretically increased in other EDS subtypes, although not quantifiable and although no patient in our cohort underwent any complication.

It emerges that digestive manifestations are extremely common, most frequently nonspecific and not serious but with major consequences on quality of life.

A systematic clinical assessment should be recommended in EDS population and further studies are needed to elucidate the pathophysiology of these disorders and to improve therapeutic management

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15 thoughts on “Visceroptosis and the Ehlers-Danlos Syndrome”

Thank you for this. I’ve been plagued by saggy, baggy visceral tissues including rectal prolapse and bladder sagginess. My esophagus is trying to form a pouch, so swallowing solids can get dicey. What to do when it’s systemic? At some point the whole mess is going to become intolerable.

I also have long had the feeling that my guts were tangled and sometimes become painfully distended in some spot.

I knead my fists deep (really deep) into that spot until I feel the painful lump. Then I try to push it back and forth or up and down in a “procedure” that’s accompanied by lots of loud burbling and squeaky scrunches as I squish around that area.

A few sessions of a few minutes each can usually ease the pain – it just takes a lot of arm strength so it turns into a sweaty bout of exercise :-)

Holy…no, I can’t type what i started to type. But the next time someone says anything to me about how horrible their workout at the gym was, I may break something over their head. How do you restrain yourself from doing so…or do you just make sure to avoid gym members?

Ye gods! Just when I thought I’d learned the worst about EDS, along comes new horrors. I’m so sorry.

I did note quite a few awfully familiar symptoms, but that’s irrelevant. However, I did undergo considerable GI investigation for a long time thru several different docs, all of whom accused me of lying when I said I’d vomited food 24 hours or more after eating. They kept insisting that wasn’t possible. Well, clearly I’m not the only person who’s ever experienced it. Yet another instance where doctors’ ignorance proves to be a severe problem for patients, & not just because it gets reeeeally infuriating to have some MoronD insist that what you damned well know is happening damned well can’t be happening.

I feel like an idiot saying, “I hope you all find relief & help somehow,” but can’t think of anything more useful or intelligent. I’m sorry about that, too.

I’ve not experienced anything that extreme, but I live with bouts of extreme “visceral discomfort” – see my reply to previous comment.

With faulty connective tissue, any part of our bodies can be affected, plus we’re unusually sensitive to our inner physical state (which always seems to be awry in some manner).
Everything I’ve ever felt in my body was later proven to be true (like feeling my joints separate slightly and then come together again). So, I’m pretty sure you’re right too.

But most patients don’t know anything about their bodies because they’re without pain and get away with ignoring what’s under the surface they keep so carefully groomed.

I’m always shocked that so many highly educated people (like engineers) have no idea how muscles work by pulling on bones or where their internal organs are. And when 95% of patients that doctors face daily have this kind of ignorance, i can understand why they don’t believe us.

When they hear me explain my symptoms (actually I read from a list I prepare beforehand) logically in medical terminology, good docs seem to catch on after a few appointments and start treating me more as a peer. But if docs are working in “standardized” corporate systems, where you might see a different doc every few visits (after all, they are assumed to be interchangeable), then you never get the opportunity to reach this kind of understanding.

I have the same condition this man has–EDS-HT with gastroptosis and resulting visceroptosis–but without the severe pain and inability to eat. (And thank God for that!) Nevertheless, the continuously distended abdomen, which only gets more distended when I eat or drink, is uncomfortable all the time, and sometimes it’s so bad that I need to lie down on my back for hours. The distension can get so severe that it causes back pain and shortness of breath, like a woman might have in the late stages of pregnancy.

For so long, I felt like a freak because I couldn’t even find anyone else with EDS-HT who had gastroptosis / visceroptosis. I was desperate to find some kind of surgery that would help me, but no one had ever seen a problem like mine. Then I read Marco Castori’s article about a woman with the very same diagnosis and all the unsuccessful surgeries she’d gone through, and I realized there was no fixing it. Now I just try to be thankful that I can still eat on my own without the agonizing pain that the man above has. Still, a couple of times a year, I end up Googling articles like this in hopes of discovering some promising new intervention to give me a little hope to cling to.

I have visceroptosis as well. I don’t think I have EDS but I have a thin body and weak connective tissues. I (still?) don’t have any pain but I have permanently bloated abdomen and I can eat only a little food…

When I was first diagnosed with gastroparesis and visceroptosis, I didn’t think I had EDS, either. I thought that was only for super flexible people. But then I went to see a rheumatologist, and she told me that my joints did indeed move in ways they shouldn’t. Eventually, that led to my EDS diagnosis. Have you ever thought about seeing a geneticist? It’s possible that you could have either EDS or a different disorder that affects connective tissue without knowing it. It’s good to know which one you have since some of them can lead to dangerous complications and should be closely monitored.

Thank you for your comment. Yes, maybe it would be useful to see a geneticist. But I really don’t see any other symptoms of EDS about me except visceroptosis. Can you say anything what make your condition at least a little bit better? I would be happy to get some useful tips.

EDS isn’t the only connective tissue disorder out there. That’s why I would recommend that anyone with a very rare, unexplained issue like visceroptosis see a geneticist. But, of course, the choice is yours.

My condition feels worse the fuller my stomach is, so I try to eat small meals throughout the day and avoid inflammatory foods–gluten, dairy, nightshade family plants. I also try to limit my fat intake since fat slows digestion. Every day, I make a big smoothie so I can consume fruits and vegetables in liquid form, which I also find to be more easily digestible. Walking for thirty minutes or so after meals can be a big help, too.

Other than that, I just make sure that I wear a lot of loose clothing like drawstring pants that can expand throughout the day. When it gets really unbearable, though, I have to lie down on my back for awhile, like it or not.

I hope that’s at least a little bit helpful. I wish there was more hope for this condition to reverse itself, but I developed it ten years ago, and it’s never gone away.

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